| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.15192134G>C | CA404533808 | NOTCH3 | c.505C>G (p.Arg169Gly) c.502C>G (p.Arg168Gly) | dbSNP |
| 19 | g.15192134G>A | CA340884 | NOTCH3 | c.505C>T (p.Arg169Cys) c.502C>T (p.Arg168Cys) | ClinVar dbSNP gnomAD v4 |
| 19 | g.15192134G= | CA2324750008 | NOTCH3 | c.505C= (p.Arg169=) c.502C= (p.Arg168=) | dbSNP |